ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1560G>A (p.Gln520=)

gnomAD frequency: 0.00001  dbSNP: rs776513501
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841306 SCV000983267 likely benign not provided 2019-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000841306 SCV002392812 likely benign not provided 2024-08-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501174 SCV002804600 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-04-12 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003127489 SCV003801395 likely benign Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs776513501 in Wolfram's syndrome yet.

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